Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.C347S

TUBA1A

358 papers

RefSeq Summary

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belo...

Pfam Domains

Tubulinaa 3–214UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 263–393UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin alpha 1a

HGNC Alias Symbols

TUBA3; B-ALPHA-1; FLJ25113

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006009.4
p.C347S
c.1040G>C
Surrounding Variants
2 papers
NM_006009.4
p.C347F
c.1040G>T
1 paper
NM_006009.4
p.C347Y
c.1040G>A
1 paper
NM_006009.4
p.C347G
c.1039T>G
1 paper
NM_006009.4
p.C347R
c.1039T>C
1 paper
NM_006009.4
p.C347S
c.1039T>A
1 paper
NM_006009.4
p.C347W
c.1041C>G
1 paper
NM_006009.4
p.C347*
c.1041C>A
2 papers
NM_006009.4
p.W346C
c.1038G>T
1 paper
NM_006009.4
p.W346fs
c.1036_1037fs
2 papers
NM_006009.4
p.W346C
c.1038G>C
2 papers
NM_006009.4
p.P348S
c.1042C>T
1 paper
NM_006009.4
p.P348A
c.1042C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."